Sideroblastic Anemia
Sideroblastic anemia is a heterogeneous group of inherited or acquired disorders characterized by defective heme synthesis in erythroblasts, leading t...
#genetic disorder
4 articles
Congenital Nephrotic Syndrome
Congenital nephrotic syndrome (CNS) is a rare, genetically heterogeneous group of disorders presenting in infancy or early childhood with massive prot...
Autosomal Dominant Polycystic Kidney Disease
Adult Polycystic Kidney Disease (ADPKD) is an autosomal dominant inherited disorder characterized by progressive development of multiple fluid-filled ...
Neurofibromatosis
Neurofibromatosis (NF) is a group of inherited genetic disorders—primarily NF1 and NF2—that cause benign tumors to develop along nerves throughout the...